Canonical Allele Identifier: PA201911
Gene: SCN5A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000326.2:p.Leu1307Phe
CA017626
NM_000335.5:c.3919C>T
CA085417
NM_000335.5:c.[3919C>T;694G>A]